COA7[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2148938	NM_023077.3(COA7):c.695A>G (p.Ter232=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161278	NM_023077.3(COA7):c.658G>C (p.Glu220Gln)	COA7 (E220Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1287335	NM_023077.3(COA7):c.656A>G (p.Lys219Arg)	COA7 (K219R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2084591	NM_023077.3(COA7):c.653A>T (p.His218Leu)	COA7 (H218L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030887	NM_023077.3(COA7):c.646C>G (p.Gln216Glu)	COA7 (Q216E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167423	NM_023077.3(COA7):c.621C>T (p.Ala207=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011614	NM_023077.3(COA7):c.577A>G (p.Met193Val)	COA7 (M193V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806136	NM_023077.3(COA7):c.574C>T (p.Arg192Cys)	COA7 (R192C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762032	NM_023077.3(COA7):c.570C>T (p.Ala190=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003478	NM_023077.3(COA7):c.556G>A (p.Ala186Thr)	COA7 (A186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806137	NM_023077.3(COA7):c.540_550dup (p.Ile184fs)	COA7 (I184fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1972960	NM_023077.3(COA7):c.456C>T (p.Asn152=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973945	NM_023077.3(COA7):c.251G>A (p.Gly84Asp)	COA7 (G84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1351416	NM_023077.3(COA7):c.248-3C>T	COA7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2989121	NM_023077.3(COA7):c.248-20C>T	COA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281780	NM_023077.3(COA7):c.248-36C>G	COA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253097	NM_023077.3(COA7):c.248-92dup	COA7	Duplication (intron variant)	not provided	GBenign
Select item 1271736	NM_023077.3(COA7):c.248-145C>T	COA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 438351	NM_023077.3(COA7):c.247+1G>T	COA7	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 1916651	NM_023077.3(COA7):c.237G>A (p.Val79=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362120	NM_023077.3(COA7):c.233A>G (p.Tyr78Cys)	COA7 (Y78C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486387	NM_023077.3(COA7):c.224G>A (p.Gly75Glu)	COA7 (G75E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923357	NM_023077.3(COA7):c.188A>G (p.Glu63Gly)	COA7 (E63G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076792	NM_023077.3(COA7):c.180T>G (p.Phe60Leu)	COA7 (F60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067828	NM_023077.3(COA7):c.177G>A (p.Lys59=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717674	NM_023077.3(COA7):c.143G>A (p.Arg48Gln)	COA7 (R48Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1960790	NM_023077.3(COA7):c.124G>T (p.Asp42Tyr)	COA7 (D42Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009597	NM_023077.3(COA7):c.120G>A (p.Leu40=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030824	NM_023077.3(COA7):c.113A>G (p.Tyr38Cys)	COA7 (Y38C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2420136	NM_023077.3(COA7):c.112T>C (p.Tyr38His)	COA7 (Y38H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335810	NM_023077.3(COA7):c.107-2A>G	COA7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2876154	NM_023077.3(COA7):c.106+9C>T	COA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034081	NM_023077.3(COA7):c.106+8G>A	COA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2585171	NM_023077.3(COA7):c.97del (p.Asp33fs)	COA7 (D33fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GLikely pathogenic
Select item 2076925	NM_023077.3(COA7):c.91G>A (p.Glu31Lys)	COA7 (E31K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638818	NM_023077.3(COA7):c.58A>T (p.Met20Leu)	COA7 (M20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967070	NM_023077.3(COA7):c.57C>T (p.Asn19=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976344	NM_023077.3(COA7):c.55A>G (p.Asn19Asp)	COA7 (N19D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405269	NM_023077.3(COA7):c.36G>C (p.Gln12His)	COA7 (Q12H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 625460	NM_023077.3(COA7):c.17A>G (p.Asp6Gly)	COA7 (D6G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	GPathogenic
Select item 2066803	NM_023077.3(COA7):c.7G>C (p.Gly3Arg)	COA7 (G3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896732	NM_023077.3(COA7):c.6C>T (p.Ala2=)	COA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1259726	NC_000001.11:g.52698478G>T	COA7	Single nucleotide variant	not provided	GBenign

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Items: 43